Salud Pública de México

Mutational profile by targeted next generation sequencing of non-small cell lung cancer in the Mexican population

Norma Hernández-Pedro, Giovanny Soca-Chafre, Carmen Alaez-Versón, Karol Carrillo-Sánchez, Alejandro Avilés-Salas, Edgar Vergara, Oscar Arrieta


Objective. Targeted next-generation sequencing (t-NGS) has revolutionized clinical diagnosis allowing multiplexed de­tection of genomic alterations. This study evaluated the profile of somatic mutations by t-NGS in Mexican patients with non-small cell lung cancer (NSCLC). Materials and methods. Genomic DNA was extracted from 90 lung adenocarcinomas and sequences were generated for a panel of 48 cancer ge­nes. Epidermal Growth Factor Receptor (EGFR) mutations were detected in parallel by quantitative PCR. Results. The mutational profile of NSCLC revealed alterations in 27 genes, where TP53 (47.8%) and EGFR (36.7%) exhibited the highest mutation rates. EGFR Q787 mutations were present in 14 cases (15.6%), 10 cases had exon 19 deletions (11.1%), seven cases had L858R (7.8%). The mutational frequency for genes like EGFR, MET, HNF1A, HER2 and GUSB was different compared to caucasian population. Conclusion. t-NGS improved NSCLC treatments efficacy due to its sensitivity and specificity. A distinct pattern of somatic mutations was found in Mexican population. 

Palabras clave

mutational analysis, DNA; adenocarcinoma; lung; DNA sequencing

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Salud Pública de México es una publicación periódica electrónica, bimestral, publicada por el Instituto Nacional de Salud Pública (con domicilio en Avenida Universidad núm. 655, col. Santa María Ahuacatitlán, Cuernavaca, Morelos, C.P. 62100, teléfono 329-3000, página web,, con ISSN: 1606-7916 y Reserva de Derechos al Uso Exclusivo con número: 04-2012-071614550600-203, ambos otorgados por el Instituto Nacional del Derecho de Autor. Editor responsable: Carlos Oropeza Abúndez. Responsable de la versión electrónica: Subdirección de Comunicación Científica y Publicaciones, Avenida Universidad núm. 655, planta baja, col. Santa María Ahuacatitlán, Cuernavaca, Morelos, C.P. 62100, teléfono 329 3000. Fecha de última modificación: 11 de abril de 2019. D.R. © por el sitio: Instituto Nacional de Salud Pública.

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